Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A2M 0 genome.wustl.edu 37 12 9220358 9220359 + Frame_Shift_Ins INS - - T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 12 9220358 9220359 - T INS A2M ENST00000543436 human ensembl 69_37n -1 putative frame_shift_ins c.502_501 p.R167fs 0.000:0.000 NULL pfam_Macroglobln_a2,pfam_SV_autoAg - no_start_codon:pseudogene:no_stop_codon A2M HGNC ENSG00000175899 37 0 0.00 15 15 50.00 - - - ABR 0 genome.wustl.edu 37 17 909373 909374 + Frame_Shift_Ins INS - - G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 17 909373 909374 - G INS ABR ENST00000302538 human ensembl 69_37n -1 known frame_shift_ins c.2527_2526 p.I842fs 1.000:1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 27 0 0.00 37 5 11.90 - - - ALDH1A1 0 genome.wustl.edu 37 9 75540496 75540496 + Silent SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 9 75540496 75540496 C T SNP ALDH1A1 ENST00000297785 human ensembl 69_37n -1 known silent c.537 p.K179 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 104 0 0.00 78 54 40.91 - - - ANO8 0 genome.wustl.edu 37 19 17436073 17436074 + Frame_Shift_Del DEL CT CT - TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 19 17436073 17436074 CT - DEL ANO8 ENST00000159087 human ensembl 69_37n -1 known frame_shift_del c.2784_2783 p.E928fs 0.975:0.978 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 19 0 0.00 1 2 66.67 - - - ARHGAP35 0 genome.wustl.edu 37 19 47492897 47492897 + Missense_Mutation SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 19 47492897 47492897 C T SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known missense c.4001 p.P1334L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 99 0 0.00 35 16 31.37 - - - BDP1 0 genome.wustl.edu 37 5 70793174 70793174 + Missense_Mutation SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 5 70793174 70793174 C T SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.1877 p.A626V 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 91 0 0.00 157 24 13.26 - - - CEP350 0 genome.wustl.edu 37 1 180047729 180047729 + Frame_Shift_Del DEL G G - TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 180047729 180047729 G - DEL CEP350 ENST00000367607 human ensembl 69_37n +1 known frame_shift_del c.5899 p.S1968fs 0.704 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 132 0 0.00 135 100 41.67 - - - CROT 0 genome.wustl.edu 37 7 86988539 86988539 + Missense_Mutation SNP C C G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 7 86988539 86988539 C G SNP CROT ENST00000331536 human ensembl 69_37n +1 known missense c.133 p.Q45E 0.999 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 79 0 0.00 67 91 57.59 - - - DNAH3 0 genome.wustl.edu 37 16 21115812 21115812 + Silent SNP T T C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 16 21115812 21115812 T C SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known silent c.2346 p.A782 0.995 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 155 0 0.00 266 132 33.17 - - - DNAJB3 0 genome.wustl.edu 37 2 234652187 234652188 + RNA INS - - C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 2 234652187 234652188 - C INS DNAJB3 ENST00000449667 human ensembl 69_37n -1 known rna NULL NULL 0.050:0.014 - - - no_errors DNAJB3 HGNC ENSG00000227802 62 0 0.00 31 5 13.89 - - - DSCAM 0 genome.wustl.edu 37 21 41427655 41427655 + Missense_Mutation SNP T T C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 21 41427655 41427655 T C SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known missense c.5032 p.I1678V 0.999 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 162 0 0.00 83 45 35.16 - - - DUSP16 0 genome.wustl.edu 37 12 12630859 12630860 + Frame_Shift_Ins INS - - G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 12 12630859 12630860 - G INS DUSP16 ENST00000228862 human ensembl 69_37n -1 known frame_shift_ins c.906_905 p.G303fs 0.737:0.915 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 55 0 0.00 24 16 40.00 - - - EDC4 0 genome.wustl.edu 37 16 67917529 67917529 + Frame_Shift_Del DEL C C - TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 16 67917529 67917529 C - DEL EDC4 ENST00000358933 human ensembl 69_37n +1 known frame_shift_del c.3908 p.Q1304fs 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 65 0 0.00 18 2 10.00 - - - FASTKD5 0 genome.wustl.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 20 3128000 3128001 - C INS FASTKD5 ENST00000380266 human ensembl 69_37n -1 known frame_shift_ins c.1717_1716 p.P572fs 1.000:0.997 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 54 0 0.00 64 9 12.33 - - - FCRL1 0 genome.wustl.edu 37 1 157767580 157767580 + Missense_Mutation SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 157767580 157767580 C T SNP FCRL1 ENST00000358292 human ensembl 69_37n -1 known missense c.1028 p.G343D 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL1 HGNC ENSG00000163534 203 0 0.00 96 93 49.21 - - - FRMPD4 0 genome.wustl.edu 37 X 12734333 12734333 + Missense_Mutation SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 X 12734333 12734333 C A SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known missense c.1755 p.S585R 0.016 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 131 0 0.00 55 41 42.71 - - - ITPKB 0 genome.wustl.edu 37 1 226924456 226924456 + Frame_Shift_Del DEL G G - TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 226924456 226924456 G - DEL ITPKB ENST00000272117 human ensembl 69_37n -1 known frame_shift_del c.704 p.P235fs 0.014 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 14 0 0.00 4 2 33.33 - - - KL 0 genome.wustl.edu 37 13 33629465 33629465 + Missense_Mutation SNP A A T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 13 33629465 33629465 A T SNP KL ENST00000426690 human ensembl 69_37n +1 known missense c.691 p.T231S 0.249 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 65 0 0.00 35 13 26.53 - - - KRT1 0 genome.wustl.edu 37 12 53070227 53070227 + Missense_Mutation SNP G G A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 12 53070227 53070227 G A SNP KRT1 ENST00000252244 human ensembl 69_37n -1 known missense c.1307 p.A436V 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 115 0 0.00 44 32 42.11 - - - LMOD1 0 genome.wustl.edu 37 1 201869751 201869751 + Silent SNP T T C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 201869751 201869751 T C SNP LMOD1 ENST00000367288 human ensembl 69_37n -1 known silent c.390 p.L130 0.034 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 144 0 0.00 58 46 44.23 - - - MAP3K4 0 genome.wustl.edu 37 6 161470644 161470644 + Missense_Mutation SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 6 161470644 161470644 C T SNP MAP3K4 ENST00000392142 human ensembl 69_37n +1 known missense c.1340 p.T447I 0.039 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC ENSG00000085511 172 0 0.00 164 46 21.90 - - - MFN2 0 genome.wustl.edu 37 1 12062055 12062055 + Missense_Mutation SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 12062055 12062055 C A SNP MFN2 ENST00000235329 human ensembl 69_37n +1 known missense c.1055 p.S352Y 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN2 HGNC ENSG00000116688 140 0 0.00 25 25 50.00 - - - MIR614 0 genome.wustl.edu 37 12 13068851 13068851 + RNA SNP G G A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 12 13068851 13068851 G A SNP MIR614 ENST00000385082 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MIR614 HGNC ENSG00000207817 184 0 0.00 73 87 54.37 - - - MIR614 0 genome.wustl.edu 37 12 13068852 13068852 + RNA SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 12 13068852 13068852 C A SNP MIR614 ENST00000385082 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MIR614 HGNC ENSG00000207817 183 0 0.00 73 88 54.66 - - - NAA10 0 genome.wustl.edu 37 X 153197829 153197829 + Missense_Mutation SNP G G T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 X 153197829 153197829 G T SNP NAA10 ENST00000464845 human ensembl 69_37n -1 known missense c.281 p.A94D 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA10 HGNC ENSG00000102030 64 0 0.00 20 19 48.72 - - - NACAD 0 genome.wustl.edu 37 7 45120356 45120357 + Frame_Shift_Ins INS - - C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 7 45120356 45120357 - C INS NACAD ENST00000490531 human ensembl 69_37n -1 known frame_shift_ins c.4557_4556 p.D1519fs 0.941:1.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 101 0 0.00 11 3 21.43 - - - NLGN3 0 genome.wustl.edu 37 X 70389734 70389735 + Frame_Shift_Ins INS - - C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 X 70389734 70389735 - C INS NLGN3 ENST00000358741 human ensembl 69_37n +1 known frame_shift_ins c.2334_2335 p.H780fs 0.004:0.347 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 148 1 0.67 73 10 12.05 - - - OBSCN 0 genome.wustl.edu 37 1 228471278 228471278 + Frame_Shift_Del DEL A A - TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 228471278 228471278 A - DEL OBSCN ENST00000422127 human ensembl 69_37n +1 known frame_shift_del c.8812 p.K2938fs 0.956 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 64 0 0.00 15 2 11.76 - - - OLFM4 0 genome.wustl.edu 37 13 53624378 53624378 + Missense_Mutation SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 13 53624378 53624378 C A SNP OLFM4 ENST00000219022 human ensembl 69_37n +1 known missense c.1005 p.N335K 0.006 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 127 0 0.00 84 58 40.85 - - - PCDH15 0 genome.wustl.edu 37 10 55912885 55912885 + Missense_Mutation SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 10 55912885 55912885 C A SNP PCDH15 ENST00000320301 human ensembl 69_37n -1 known missense c.1759 p.D587Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 172 0 0.00 125 43 25.60 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 83 0 0.00 101 72 41.62 - - - PRPF3 0 genome.wustl.edu 37 1 150307447 150307447 + Missense_Mutation SNP T T C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 150307447 150307447 T C SNP PRPF3 ENST00000324862 human ensembl 69_37n +1 known missense c.770 p.I257T 1.000 NULL pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI - no_errors PRPF3 HGNC ENSG00000117360 94 0 0.00 39 26 40.00 - - - RNF123 0 genome.wustl.edu 37 3 49750025 49750025 + Silent SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 3 49750025 49750025 C A SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known silent c.2610 p.A870 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 90 0 0.00 15 12 44.44 - - - SATB2 0 genome.wustl.edu 37 2 200137254 200137254 + Missense_Mutation SNP T T A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 2 200137254 200137254 T A SNP SATB2 ENST00000260926 human ensembl 69_37n -1 known missense c.1882 p.I628F 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 103 0 0.00 69 69 49.64 - - - SDK1 0 genome.wustl.edu 37 7 4011199 4011199 + Missense_Mutation SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 7 4011199 4011199 C T SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known missense c.1816 p.R606C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 108 0 0.00 66 26 28.26 - - - SLC10A6 0 genome.wustl.edu 37 4 87770240 87770240 + Missense_Mutation SNP G G A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 4 87770240 87770240 G A SNP SLC10A6 ENST00000273905 human ensembl 69_37n -1 known missense c.29 p.A10V 0.991 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 54 0 0.00 26 9 25.71 - - - SLC13A2 0 genome.wustl.edu 37 17 26817851 26817851 + Silent SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 17 26817851 26817851 C T SNP SLC13A2 ENST00000444914 human ensembl 69_37n +1 known silent c.648 p.N216 0.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 175 0 0.00 29 21 42.00 - - - SLC5A12 0 genome.wustl.edu 37 11 26725447 26725447 + Silent SNP G G A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 11 26725447 26725447 G A SNP SLC5A12 ENST00000396005 human ensembl 69_37n -1 known silent c.573 p.V191 0.994 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 189 0 0.00 112 43 27.74 - - - SMCR8 0 genome.wustl.edu 37 17 18220579 18220579 + Missense_Mutation SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 17 18220579 18220579 C A SNP SMCR8 ENST00000406438 human ensembl 69_37n +1 known missense c.1476 p.S492R 1.000 NULL pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 30 0 0.00 4 4 50.00 - - - SMG5 0 genome.wustl.edu 37 1 156252453 156252454 + Frame_Shift_Ins INS - - G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 156252453 156252454 - G INS SMG5 ENST00000361813 human ensembl 69_37n -1 known frame_shift_ins c.19_18 p.T6fs 0.004:0.011 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG5 HGNC ENSG00000198952 33 0 0.00 26 4 13.33 - - - STARD8 0 genome.wustl.edu 37 X 67937329 67937329 + Missense_Mutation SNP G G T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 X 67937329 67937329 G T SNP STARD8 ENST00000374599 human ensembl 69_37n +1 known missense c.573 p.Q191H 0.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 74 0 0.00 11 14 56.00 - - - TIMMDC1 0 genome.wustl.edu 37 3 119236093 119236093 + Missense_Mutation SNP C C G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 3 119236093 119236093 C G SNP TIMMDC1 ENST00000494664 human ensembl 69_37n +1 known missense c.638 p.S213C 0.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMMDC1 HGNC ENSG00000113845 124 0 0.00 125 114 47.70 - - - TMC8 0 genome.wustl.edu 37 17 76128557 76128558 + Frame_Shift_Ins INS - - C TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 17 76128557 76128558 - C INS TMC8 ENST00000318430 human ensembl 69_37n +1 known frame_shift_ins c.416_417 p.D142fs 0.060:0.060 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 20 0 0.00 4 2 33.33 - - - TTL 0 genome.wustl.edu 37 2 113277954 113277954 + Missense_Mutation SNP A A G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 2 113277954 113277954 A G SNP TTL ENST00000233336 human ensembl 69_37n +1 known missense c.971 p.E324G 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTL HGNC ENSG00000114999 187 0 0.00 80 88 52.38 - - - WSCD2 0 genome.wustl.edu 37 12 108642028 108642028 + Missense_Mutation SNP C C A TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 12 108642028 108642028 C A SNP WSCD2 ENST00000261400 human ensembl 69_37n +1 known missense c.1666 p.Q556K 1.000 NULL pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 105 0 0.00 22 24 52.17 - - - ZCCHC6 0 genome.wustl.edu 37 9 88961242 88961242 + Missense_Mutation SNP T T G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 9 88961242 88961242 T G SNP ZCCHC6 ENST00000375963 human ensembl 69_37n -1 known missense c.674 p.K225T 0.429 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 397 0 0.00 280 151 35.03 - - - ZFYVE9 0 genome.wustl.edu 37 1 52704506 52704509 + Frame_Shift_Del DEL TATC TATC - TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 TATC TATC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 1 52704506 52704509 TATC - DEL ZFYVE9 ENST00000287727 human ensembl 69_37n +1 known frame_shift_del c.1417_1420 p.S475fs 0.923:0.916:0.906:0.903 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 110 0 0.00 73 42 36.21 - - - ZNF354C 0 genome.wustl.edu 37 5 178503490 178503490 + Silent SNP C C T TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 5 178503490 178503490 C T SNP ZNF354C ENST00000315475 human ensembl 69_37n +1 known silent c.72 p.D24 0.590 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 262 0 0.00 270 82 23.30 - - - ZNF74 0 genome.wustl.edu 37 22 20759967 20759967 + Missense_Mutation SNP C C G TCGA-B6-A0IC-01A-11W-A050-09 TCGA-B6-A0IC-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f23fd730-0a18-4e3b-a2ed-f1a4231c2b53 4882294f-dbab-4a58-a2b9-aa53b02158f7 22 20759967 20759967 C G SNP ZNF74 ENST00000356671 human ensembl 69_37n +1 known missense c.644 p.A215G 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 47 0 0.00 6 10 62.50 - - -